A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922864



Internal ID16000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200863329..200863604hg38UCSC Ensembl
chr2:201728052..201728327hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452545
Supporting Variants
Samples
Known GenesCLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922864
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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